A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3527882



Internal ID22397268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124174515..124174860hg38UCSC Ensembl
chr8:125186756..125187101hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg38346
hg19346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14344913, nssv14344914, nssv14344911, nssv14344912, nssv14344909, nssv14344910, nssv14344908
SamplesHG00512, NA19238, NA19239, HG00732, NA19240, HG00513, HG00514
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3527882
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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